I hope I find you in good health. A distressed mother came into my practice 8 months ago with her 7year old son whom she said had a problem of bleeding at the slightest of contacts. Her other 14year old son had a similar problem and was now walking on crutches because of 'stiff' knee joints. It turned out both her sons had haemophilia.
Haemophilia is an inherited bleeding disorder that affects mostly males. Blood contains many proteins, called clotting factors, which work to stop bleeding. In people with bleeding disorders, these clotting factors are missing or do not work as they should. The severity of a person's haemophilia depends on the amount of clotting factor that is missing.

Clotting factors are proteins in the blood that make blood clot. There are 13 main factors (identified by roman numerals) that work together to produce a clot. If one factor is missing, the chain reaction is broken, clots will not form properly, and bleeding will continue.

A person with haemophilia does not bleed faster than anyone else, but bleeding may last longer. The longer bleeding time can leak blood into joints, muscles, brains and other organs. Bleeding into joints and muscles can cause stiffness, pain, severe joint damage, disability, and sometimes death. The main danger is uncontrolled internal bleeding that starts spontaneously or results from injury.

Although effective treatment of this condition has only become available in recent decades, haemophilia was a disease known to the ancient world. The earliest written references to what appears to be haemophilia are encountered in Jewish texts of the second century AD. Rabbinical rulings exempted male boys from circumcision if two brothers previously died of bleeding after the procedure. The Jewish physician Moses Maimonides (1135-1204 A.D.) applied this rabbinic ruling to the sons of a woman who had married twice, thus apparently appreciating the hereditary nature of the condition.

Hemophilia is usually inherited and about one in every 5,000 males is born with the disorder. It is not contagious but can sometimes occur when there is no family history of hemophilia. About 30% of people with hemophilia did not inherit it through their parents. The cause is spontaneous change in the person's own genes.

When the father has hemophilia but the mother does not, none of the sons will inherit hemophilia, but all of the daughters will carry the gene. Women who carry the hemophilia gene may show signs of hemophilia. There is a 50% chance that their sons will have hemophilia and a 50% chance that their daughters will also carry the gene. Women can have hemophilia in the rare case that their father has the disorder and the mother is a carrier.

Some of the signs of haemophilia include; big bruises; bleeding into muscles and joints, especially the knees, elbows and ankles; sudden bleeding inside the body for no clear reason; prolonged bleeding after a cut or tooth removal and some women have unusually heavy and long menstrual periods.

Bruises are very common in children with haemophilia. A bruise is not usually cause for alarm unless it is on the person's head or neck, the person has a hard time moving, the bruise hurts, the lump in the bruise gets larger or does not go away, or there is swelling, numbness, or a tingling feeling along with the bruising. If any of these symptoms are experienced, contact your doctor.

There is no cure for hemophilia yet but effective treatment for hemophilia is available. Bleeding can be treated with an injection of clotting factor that is made from blood or biotechnological ingredients called recombinants. Bleeding stops when enough clotting factor reaches the affected area.
Haemophilia usually affects men, because the haemophilia gene is carried on the same chromosome that determines whether a person is male or female. The chromosomes that determine a person's sex are called X and Y. Men have an X and a Y chromosome and women have two X chromosomes.
The genes for haemophilia A and B are on the X chromosome. Because women have two X chromosomes, if one does not work properly, the other X chromosome makes up for it. However, if women have the haemophilia gene on both X chromosomes, then she will have haemophilia
There are two types of haemophilia: haemophilia A and haemophilia B (sometimes called Christmas disease). Both are caused by a lack or absence of one of the proteins in the blood (called factors) that control bleeding. Haemophilia A is caused by a deficiency of factor VIII, and haemophilia B is caused by a deficiency of factor IX. There is no difference between the two types of haemophilia, except that haemophilia B is about five times less common than haemophilia A.
Haemophilia is diagnosed by measuring the level of factor activity in the blood. If the mother is a carrier, testing can be done before a baby is born. Prenatal diagnosis can be done at 9 to 11 weeks by chorionic villus sampling (CVS) or fetal blood sampling at a later stage (18 or more weeks).
Haemophilia A is diagnosed by testing the level of factor VIII coagulation activity in the blood. Haemophilia B is diagnosed by measuring the level of factor IX activity
People with haemophilia should not take aspirin (ASA or acetylsalicylic acid), or anything containing aspirin, because it interferes with the stickiness of the blood platelets, and adds to problems with bleeding. Paracetamol (acetaminophen) is a perfectly safe alternative to aspirin to relieve pain, for example, headaches.
Some people with haemophilia do not exercise because they think it may cause bleeds, but exercise actually helps prevent bleeds. Strong muscles help protect someone who has haemophilia from spontaneous bleeds and joint damage.
Sport is an important activity for young people. It not only helps build their muscles, it helps them develop mental concentration and coordination, and learn about being part of a team. However, some sports are riskier than others, and the benefits must be weighed against the risks. The severity of a person's haemophilia should also be considered when choosing a sport. Sports like swimming, badminton, cycling, and walking are sports that most people with haemophilia can safely participate in, whilst rough high contact sports like, rugby, and boxing are not recommended for people with haemophilia as they may cause bleeds. Sports like swimming, which provides aerobic exercise while the water provides a natural cushion for the limbs, are usually the best for people with haemophilia. People learn to manage their condition and know what is good for them to do and are recommended to speak to their doctor.
People with haemophilia can do just about any job they like. There are doctors, accountants, small business people and shop assistants with haemophilia. They should, however, avoid occupations that increase their chances of bleeds. (e.g. professional wrestling!) Some adults with haemophilia may find that they are not able to work as long as other people. This is usually because of severe arthritis, rather than haemophilia itself.

The life expectancy of someone with haemophilia varies depending on whether they receive proper treatment. Without adequate treatment, many people with haemophilia die before they reach adulthood. However, with proper treatment, life expectancy for people with haemophilia is about 10 years less than that of males without haemophilia.
Till next take care of yourselves and each other.